Canonical Allele Identifier: CA137278433

Gene: TULP1

Linked Data

• ClinVar Variation Id: 1290549
• ClinVar RCV Id: RCV001715318
• dbSNP Id: rs12665445
• gnomAD v2: 6-35468039-G-C
• gnomAD v3: 6-35500262-G-C
• gnomAD v4: 6-35500262-G-C
• MyVariant Identifiers: chr6:g.35468039G>C (hg19) ; chr6:g.35500262G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.35500262G>C , CM000668.2:g.35500262G>C	GRCh38
NC_000006.11:g.35468039G>C , CM000668.1:g.35468039G>C	GRCh37
NC_000006.10:g.35576017G>C	NCBI36
NG_009077.1:g.17609C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000229771.11:c.1324-110C>G MANE Select	ENSP00000229771.6:n.1324-110C>G
ENST00000229771.10:c.1324-110C>G	ENSP00000229771.6:n.1324-110C>G
ENST00000322263.8:c.1165-110C>G	ENSP00000319414.4:n.1165-110C>G
ENST00000495781.1:n.500-110C>G
ENST00000614066.4:c.1318-110C>G	ENSP00000477534.1:n.1318-110C>G
NM_001289395.1:c.1165-110C>G	NP_001276324.1:n.1165-110C>G
NM_003322.4:c.1324-110C>G	NP_003313.3:n.1324-110C>G
NM_003322.5:c.1324-110C>G	NP_003313.3:n.1324-110C>G
NM_003322.6:c.1324-110C>G MANE Select	NP_003313.3:n.1324-110C>G
NM_001289395.2:c.1165-110C>G	NP_001276324.1:n.1165-110C>G